Viewing single variant in ATP6

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

ATP6:m.4401A>G

Tutor Research

Nomenclaturem.4401A>GchrMT:4401|Not in ClinVar

Typemitochondrial control region variant

gnomAD mtDNA

2 hom · 0 het

of 56,433 genomes

Tutor Research

MITOMAPReported

Live entry

Disease: Hypertension+Ventricular HypertrophyReported as: homoplasmicGenBank: 13 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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ACCTATCACACCCCATCCTAAAGTAAGGTCAGCTAAATAAG

MT-TQ (L-strand) · ends m.4400

MT-TM · starts m.4402

m.4381–4421 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4401 A→G.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

Open Research Assistant for ATP6 →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.4401A>G

Resolving variant against ClinVar, gnomAD and Ensembl…

ATP6:m.4401A>G

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

External Resources

ATP6:m.4401A>G

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

External Resources